title: Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure.
abstract: The newborn ovary homeobox gene (NOBOX) is an oocyte-specific homeobox gene that plays a critical role in early folliculogenesis, thus representing an attractive candidate gene for nonsyndromic ovarian failure. We investigated whether perturbation in the homeodomain region of NOBOX was present in Chinese women with premature ovarian failure (POF). We sequenced 200 Chinese patients with POF, and discovered only two known single nucleotide polymorphisms: in intron 6 (c.1154+11 T>C and c.1155-22 G>A); neither offers plausible explanations for POF. Failing to find causative mutation contrasts with our previous study in a caucasian sample, in which we found plausible homeobox mutation in 1 of 96 POF cases. Mutations in the homeobox domain of NOBOX are not common explanations for POF in Chinese women.
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital affiliated to Shandong University, Jinan, People's Republic of China.
authors.forename: Yingying
authors.initials: Y
authors.lastname: Qin
authors.forename: Yuhua
authors.initials: Y
authors.lastname: Shi
authors.forename: Yueran
authors.initials: Y
authors.lastname: Zhao
authors.forename: Sandra Ann
authors.initials: SA
authors.lastname: Carson
authors.forename: Joe Leigh
authors.initials: JL
authors.lastname: Simpson
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002681:China; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D016649:Primary Ovarian Insufficiency / Q000208:ethnology* / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
chemical_list: D018398:Homeodomain Proteins; C506600:NOBOX protein, human; D014157:Transcription Factors; D004247:DNA